Variant report

Variant	esv3364236
Chromosome Location	chr4:78793678-78794242
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:78789900..78791589-chr4:78793364..78796295,2	K562	blood:
2	chr4:78782527..78785375-chr4:78792236..78798548,6	MCF-7	breast:
3	chr4:78783842..78785512-chr4:78793399..78795531,2	K562	blood:
4	chr4:78782878..78784636-chr4:78792721..78794473,2	MCF-7	breast:
5	chr4:78733342..78735297-chr4:78791961..78793861,2	K562	blood:
6	chr4:78791921..78794709-chr4:78802036..78804705,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169288	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150864286	chr4:78793705-78793706	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530955630	chr4:78793714-78793715	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs374058314	chr4:78793722-78793723	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs139495768	chr4:78793750-78793751	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563178796	chr4:78793789-78793790	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs4328941	chr4:78793874-78793875	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs549284342	chr4:78793880-78793881	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565495215	chr4:78793909-78793910	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534620566	chr4:78793932-78793933	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181464755	chr4:78793941-78793942	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs56754316	chr4:78793953-78793954	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs558846192	chr4:78793963-78793964	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs578078612	chr4:78793965-78793966	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537175634	chr4:78793972-78793973	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557554489	chr4:78793975-78793976	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543807136	chr4:78793983-78793984	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186788416	chr4:78793997-78793998	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536499144	chr4:78794016-78794017	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs146065881	chr4:78794060-78794061	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs573495967	chr4:78794074-78794075	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79419507	chr4:78794126-78794127	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544996381	chr4:78794143-78794144	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs564964674	chr4:78794147-78794148	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs190042392	chr4:78794199-78794200	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181829452	chr4:78794204-78794205	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78784600-78795800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:78784600-78801800	Weak transcription	Aorta	Aorta
3	chr4:78784800-78808400	Weak transcription	Brain Substantia Nigra	brain
4	chr4:78784800-78842200	Weak transcription	HSMMtube	muscle
5	chr4:78784800-78859800	Weak transcription	Esophagus	oesophagus
6	chr4:78785000-78794400	Weak transcription	Fetal Intestine Small	intestine
7	chr4:78785000-78798400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:78785000-78798800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:78785000-78798800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:78785000-78801400	Weak transcription	Pancreas	Pancrea
11	chr4:78785000-78801400	Weak transcription	Psoas Muscle	Psoas
12	chr4:78785000-78803000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:78785000-78805800	Weak transcription	Colonic Mucosa	Colon
14	chr4:78785000-78807000	Weak transcription	Brain Anterior Caudate	brain
15	chr4:78785000-78808400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:78785000-78808800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:78785000-78810600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:78785000-78831200	Weak transcription	Brain Angular Gyrus	brain
19	chr4:78785000-78831600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr4:78785000-78841800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:78785000-78874400	Weak transcription	Right Ventricle	heart
22	chr4:78785200-78794400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr4:78785200-78794800	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:78785200-78794800	Weak transcription	Fetal Lung	lung
25	chr4:78785200-78798800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:78785200-78805000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:78785200-78806600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr4:78785200-78808400	Weak transcription	Fetal Brain Male	brain
29	chr4:78785200-78816200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr4:78785200-78818800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr4:78785200-78820800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr4:78785400-78795200	Weak transcription	NHDF-Ad	bronchial
33	chr4:78785400-78797000	Weak transcription	Thymus	Thymus
34	chr4:78785400-78798800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr4:78785400-78808200	Weak transcription	Fetal Kidney	kidney
36	chr4:78785400-78829800	Weak transcription	Fetal Heart	heart
37	chr4:78785600-78793800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr4:78785600-78793800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr4:78785600-78808200	Weak transcription	Hela-S3	cervix
40	chr4:78785600-78808400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:78785800-78793800	Weak transcription	NHEK	skin
42	chr4:78786000-78794800	Weak transcription	Fetal Brain Female	brain
43	chr4:78786000-78803000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:78786000-78804000	Weak transcription	Fetal Intestine Large	intestine
45	chr4:78786600-78799800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:78787000-78794400	Weak transcription	HUVEC	blood vessel
47	chr4:78787200-78801400	Weak transcription	A549	lung
48	chr4:78787400-78794600	Weak transcription	GM12878-XiMat	blood
49	chr4:78790400-78808200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr4:78790400-78808400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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